Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease

Fabry disease (FD) is a lysosomal storage disease caused by mutations in the gene for the α-galactosidase A (GLA) enzyme. The absence of the enzyme or its activity results in the accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3), in different tissues, leading to a wide range of...

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Detalles Bibliográficos
Autores principales: Modrego, Andrea, Amaranto, Marilla, Godino, Agustina, Mendoza, Rosa, Barra, José Luis, Corchero, José Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8234732/
https://www.ncbi.nlm.nih.gov/pubmed/34204583
http://dx.doi.org/10.3390/ijms22126518

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8234732/
https://www.ncbi.nlm.nih.gov/pubmed/34204583
http://dx.doi.org/10.3390/ijms22126518

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